Mutation details: The allele contains a 3 bp deletion in exon 10 of nucleotides between 1656 to 1660, resulting in the loss of a codon corresponding to a phenylalanine. A neomycin selection cassette was also inserted in intron 10 in reverse transcriptional orientation to the gene.
(J:29074)

This (J:29074) and other (J:27734, J:28979) targeted mutations reproduce the common human mutation, eliminating the same phenylalanine from the protein sequence. In at least one of these models, the mutant is temperature sensitive, and can be expressed on the apical membrane when cultured at low temperatures, which is also true of the human mutant lacking the same phenylalanine residue (J:35364).